Thursday, February 23, 2023
Rare diseases are not as “rare” as they may first seem. There is a good chance that each of us may know someone who has some form of a rare disease. About 1 in 12 Canadians, two-thirds of whom are children, are affected by a rare disorder. That translates to approximately 3 million Canadians and their families facing a debilitating disease.
Despite this reality, Canada is one of the few advanced economies in the world without a recognized rare disease framework or even an established definition for rare disease. Different levels of Canadian governments have been grappling with this issue for years, and it will take leadership, commitment, and a high level of ambition from all in order to deliver on progress.
The time for action is now. Those 3 million Canadians facing a rare disease must be placed at the centre of any policy.
What is a “rare disease?”
Pfizer strongly believes that Canada should aim high and provide world-class, sustainable, and predictable care for patients with rare diseases. It starts with defining what a rare disease is. With the lack of a formally implemented definition under Health Canada, there is a continued risk of creating a system that may not always be as focused or efficient as it should be. It is an important basis to design and implement a policy approach in a consistent way.
There are multiple international examples of countries who have formally adopted a definition of rare disease in their health systems. A definition provides clarity for patients and other stakeholders that there is clear and precise understanding of what is considered ‘rare.’ It is also a key step for reviewing and funding treatments; towards improving early detection, monitoring and prevention; and for directing research and development appropriately for these diseases.
A Patient’s Journey with a Rare Disease
Did you know that on average, it may take 5-7 years for a rare disease patient to receive a correct diagnosis, during which time irreparable damage may have happened? 
Imagine being unable to find the cause of your child’s illness for years on end. Imagine the anxiety, the distress and a growing sense of hopelessness that may come with not knowing. Add to this the psychological burden for the parent or caregiver, impacting their ability to properly care for their child or loved one and the financial burden on the caregiver who may have to leave their employment, or reduce their working hours, in order to care for their child.
By definition, many rare diseases may only manifest in small numbers of patients, and the available clinical expertise may not be equally available in all Canadian regions and geographies. In many cases, patients with rare diseases must consult several physicians and undergo numerous tests until they receive an accurate diagnosis. By the time the patient is diagnosed, their disease may have progressed and become even more difficult to manage.
There are also inherent challenges with researching rare diseases. Randomized, controlled clinical trials are difficult due to low disease prevalence and Canada’s geographic reality; a vast country with a population spread over thousands of kilometers. Once completed, the outcomes of rare disease trials may present different types of uncertainty due to the lack of statistical power. Any Canadian strategy must incorporate and build on our recognized scientific and medical expertise, including by fostering centres of clinical excellence for rare diseases, and incorporating a way to collect and share data across Canada, among those centres of excellence.
Access to treatment remains a persistent issue for patients with rare diseases. Right now, only 60% of treatments for rare disorders make it to Canada, and most get approved up to six years later than in the USA and Europe. People with rare disorders in Canada are missing out on treatments that could save or significantly improve their lives.
The complex Canadian medicines pricing and reimbursement system, with its multiple agencies, processes, and jurisdictions, must be also navigated by stakeholders before any patient has access to treatment. Too often, the availability of rare disease treatments are delayed. Reimbursement – whether in the public or private systems – is highly variable and less predictable for rare diseases than for other areas of medicine. When available, access can be highly uneven across the country – a major policy inequity.
Pfizer believes that all stakeholders should collaborate to ensure that the experience of rare disease patients with the health system should be equitable and seamless at all stages. Irrespective of a patient’s economic status or jurisdiction of residence, they should have access to high-quality medical services and treatment.
At Pfizer Canada, we believe that people living with a rare disease deserve better.
Patients deserve an ambitious rare disease framework that aligns with values that Canadians hold dear: compassion, access, fairness, equity, and a belief that all Canadians should have access to care regardless of where they live or their ability to pay.
We remain deeply committed to collaboration with health system partners in making this vision a reality. On Rare Disease Day 2023, let’s not leave those living with a rare disease waiting, we have the momentum to act and to create impact now.
Hear from some of our colleagues below, who share their thoughts here on what it means for them to work in Pfizer’s Rare Disease team.
 Canadian Organization for Rare Disorders, https://www.raredisorders.ca/about-cord/#:~:text=There%20are%20over%207000%20known,affected%20by%20a%20rare%20disease.&text=The%20Canadian%20Organization%20for%20Rare,with%20experts%20from%20every%20sector.
 Canadian Institutes of Health Research, https://cihr-irsc.gc.ca/e/52370.html
 Canadian Organization for Rare Disorders, https://www.raredisorders.ca/our-work/